• No results found

Clinical and radiologic findings in progressive facial hemiatrophy (Parry Romberg syndrome)

N/A
N/A
Protected

Academic year: 2020

Share "Clinical and radiologic findings in progressive facial hemiatrophy (Parry Romberg syndrome)"

Copied!
7
0
0

Loading.... (view fulltext now)

Full text

(1)

Clinical and Radiologic Findings in Progressive Facial Hemiatrophy

(Parry-Romberg Syndrome)

Richard C. Cory, David A. Clayman, Walter J. Faillace, Shaun W. McKee, and Carlos H. Gama

Summary: We describe the clinical and radiologic changes re-lated to progressive facial hemiatrophy (Parry-Romberg syn-drome) occurring during a 20-month period in a child who pre-sented with unilateral neurologic deficits and facial hemiatrophy. CT and MR findings included unilateral focal infarctions in the corpus callosum, diffuse deep and subcortical white matter sig-nal changes, mild cortical thickening, and leptomeningeal en-hancement with dense mineral deposition. Angiographic findings were normal. We hypothesize that a noninfectious, unilateral inflammatory process, possibly associated with a chronic vaso-motor disturbance and sympathetic nerve chain inflammation, was a major factor in the pathogenesis of this syndrome.

Index terms: Face, atrophy; Children, diseases

Long after its description by Parry in 1825 and Romberg in 1846, progressive facial hemi-atrophy syndrome remains a poorly understood entity (1–3). The major features of this syn-drome, which have been reported previously, are atrophy of the soft tissues on one side of the face with hyperpigmentation of the overlying skin and various neurologic findings, including migraine-type headache, trigeminal neuralgia, and focal epilepsy. Imaging features consist of increased signal in the white matter on proton density– and T2-weighted magnetic resonance (MR) images, meningeal enhancement, intra-cranial calcifications, and central cerebral atro-phy.

We present serial neuroimaging findings illus-trating the progression of brain changes in a case of Parry-Romberg syndrome and specu-late on the underlying pathogenesis of this dis-order.

Case Report

We examined a 512-year-old right-handed girl with

nor-mal developmental milestones. The mother’s pregnancy

was complicated by gestational diabetes and preeclamp-sia; the patient’s medical history was unremarkable for trauma or a major illness. Intermittent frontal headaches developed insidiously, without precipitating factors. The headaches averaged 2 hours in duration, were often ac-companied by nausea and emesis, and were assuaged by acetaminophen and sleep. There were no prodromal auras and there was no family history of migraine headache. The headaches were accompanied by a mild expressive apha-sia, dysesthesia in the right hand and leg, followed by transient hand paresis and clumsiness. Normal sensation and motor strength returned after cessation of the head-aches.

Findings at neurologic examination between episodes of neurologic dysfunction were normal. Abnormal findings at computed tomography (CT) suggested a differential diagnosis of childhood hemiplegic migraine, cerebritis, or vasculitis, and prompted cerebral angiography and MR imaging.

After the first few headaches, skin atrophy and hyper-pigmentation (coup de sabre) of the left side of the fore-head below the hairline developed and progressed to in-volve the left eyelid and maxillary region lateral to the lip line (Fig 1). There was also loss of lashes around the left eye. The progressive facial changes established the diag-nosis of progressive facial hemiatrophy.

CT and MR examinations were obtained during times of progressive atrophic changes in the patient’s facial ap-pearance. CT was performed without contrast enhance-ment. All MR examinations were performed on a 1.0-T system and included axial and sagittal T1-weighted se-quences (733/20/2 [repetition time/echo time/excita-tions]) without and with contrast medium (0.1 mmol/kg gadopentetate dimeglumine) and noncontrast spin-den-sity and T2-weighted sequences (3000/20,80/1).

The initial brain CT scan, obtained at age 5 years 7 months, showed small calcifications anteriorly in the left cingulate gyrus adjacent to the genu of the corpus callo-sum (Fig 2A). Linear sulcal and gyral calcifications were present in the superior lateral left frontoparietal region. Subtle low densities in the subcortical white matter of the

Received May 30, 1995; accepted after revision July 18.

From the Departments of Radiology (R.C.C., D.A.C., S.W.McK.), Neurosurgery (W.J.F.), and Neurology (C.H.G.), University of Florida Health Science Center/Jacksonville.

Address reprint requests to David A. Clayman, MD, Department of Radiology, University of Florida Health Science Center/Jacksonville, University Medical Center, 655 W 8th St, Jacksonville, FL 32209.

AJNR 18:751–757, Apr 1997 0195-6108/97/1804 –0751©American Society of Neuroradiology

(2)
[image:2.587.50.548.84.308.2]

Fig 1. Left-sided facial changes in a 6-year-old girl with progressive facial hemiatrophy: skin atrophy and hyperpigmentation of the forehead (coup de sabre); periorbital, premaxillary, and perioral soft-tissue atro-phy and hyperpigmentation; hair loss in the medial eyebrow; and loss of lashes along the medial eyelids.

[image:2.587.48.546.407.629.2]

Fig 2. Axial noncontrast CT scans (at age 5 years 7 months) show calci-fications and adjacent white matter decreased densities in the left frontal cingulate gyrus and corpus callosum (A) and in the superior lateral left fron-toparietal parenchyma (arrowinB).

(3)

left frontal and parietal regions were identified near the calcifications (Fig 2B). Cerebral atrophy was not present. The first MR study, obtained the same day as the initial CT examination, showed a focal area of T1 and T2 pro-longation at the site of the cingulate calcification identified on the CT scan (Fig 3A and B). Subtle enhancement superior to this focus was seen on the contrast-enhanced sagittal T1-weighted MR image (Fig 4A). T2-weighted MR images clearly showed abnormal hyperintensity in the subependymal aspect of the left corpus callosal genu (Fig 3C). Abnormal signal also extended anteriorly and later-ally into the subcortical white matter of the cingulate gyrus and into the deep left frontal white matter (Fig 3B and C). Abnormal high signal in the left frontoparietal subcortical white matter extended into the centrum semiovale (Fig 5C). T1-weighted contrast-enhanced MR images showed sulcal/pial enhancement between the left frontoparietal gyri at the site of calcification shown on the CT scan and adjacent to the signal changes in the subcortical white matter (Fig 5B). More craniad axial T1- and T2-weighted MR images revealed a subtle thickening of the cortical gyri with mild effacement of the sulcal spaces (Fig 6A and B). Findings on a four-vessel cerebral arteriogram were normal. Cerebrospinal fluid (CSF) and blood chemistries

were normal; CSF and blood cultures were without growth after 5 days. A sleep-deprived electroencephalogram (EEG) was initially normal. Repeat EEG testing revealed intermittent slowing of posterior rhythms in the absence of drowsiness, without obvious epileptiform activity.

Histologic examination of a skin biopsy specimen of the hyperpigmented left side of the forehead revealed chronic inflammation with atrophy of hair follicles. Culture and special staining of this specimen showed no abnormality. Brain biopsy was considered but ultimately deferred owing to confidence in the clinical diagnosis.

[image:3.587.51.384.83.451.2]

Serial follow-up MR examinations obtained during pe-riods of worsening atrophy of the left facial structures at ages 6 years, 6 years 1 month, 6 years 5 months, and 7 years 3 months revealed progressive abnormal changes of the brain. T1-weighted images showed the development of several low signal foci in the left corpus callosum over a 9-month period (Fig 4B). One of these lesions, which showed bright contrast enhancement on T1-weighted im-ages, evolved into a well-defined hypointensity over a 6-month interval (Fig 4C and D). Meningeal enhancement of the left parietal lobe persisted and did not increase over a 20-month period (Fig 7B). A modest progression of the abnormal white matter areas of hyperintensity seen on

Fig 4. Serial parasagittal images of the patient over a period of 10 months show progression of the abnormal findings.

A, At age 5 years 7 months, a focal low signal abnormality is identified in the cor-pus callosal genu with a subtle area of enhancement superiorly (arrow).

B, At age 6 years, a new area of low signal has formed in the body of the corpus callosum, and enlargement of the genu ab-normality is noted.

C, At age 6 years 1 month, a new high-signal enhancing focus is seen in the ante-rior aspect of the corpus callosal body.

D, Finally, at age 6 years 5 months, the lesion in the anterior body of the corpus callosum no longer enhances and now is hypointense.

(4)

spin-density and T2-weighted images occurred, which co-incided with progression of facial atrophy (Fig 7C and D). A gradual increase of the cortical gyral thickening in the left parietal lobe was recognizable over time (Figs 6C and 7A, C, and D). A follow-up CT scan showed corpus cal-losal encephalomalacia and a progression of white matter low density in the left hemisphere (Fig 8A and B).

Discussion

Our patient had MR findings of acute, focal white matter enhancement with progression to

encephalomalacia, and a slowly progressive thickening of the cerebral cortex with overlying meningeal enhancement. The predominant findings were intraaxial with some areas of ex-traaxial leptomeningeal enhancement. Arterio-graphic findings were normal, similar to the ex-perience of other authors (1, 3). CT and MR findings were actively progressive at the time of angiography.

[image:4.587.47.549.84.278.2]

Increased signal intensities in the cerebral white matter have been reported in other studies

Fig 5. Axial noncontrast (A) and contrast-enhanced (B) T1-weighted MR images at the level of the centrum semiovale (at age 5 years 7 months) show sulcal/pial enhancement. Axial noncontrast T2-weighted image at the same level (C) shows abnormal subcortical high signal.

[image:4.587.47.549.334.530.2]
(5)
[image:5.587.50.383.89.524.2] [image:5.587.50.382.511.726.2]

Fig 7. Axial noncontrast (A) and contrast-enhanced (B) T1-weighted im-ages and spin-density (C) and T2-weighted (D) images through the frontal and parietal lobes above the lateral ven-tricles (at age 7 years 4 months) show mild cortical thickening involving the more frontal parenchyma. Subcortical white matter high signal changes are present (CandD). Pial enhancement is still present (B).

Fig 8. Noncontrast axial CT scans through the level of the frontal horns and corpus callosum (A) and through the high frontoparietal brain (B) (at age 6 years 5 months) show calcifications are relatively unchanged while white matter low densi-ties in the left hemisphere have pro-gressed.

(6)

of progressive facial hemiatrophy syndrome (1). Terstegge et al (2) reported meningocorti-cal dysmorphism, meningeal enhancement, and central atrophy at MR imaging and pro-posed that meningoencephalitis with vasculitis was the mechanism underlying the morpho-logic brain changes in this disorder. The pre-dominate intraaxial, as opposed to extraaxial, manifestations in our case do not completely support this hypothesis. The cortical thickening and enhancement in our patient do support me-ningocortical dysmorphism as described by Terstegge et al, but in our patient the dysmor-phism occurred without development of atro-phy. Intracranial calcifications (1, 3–5) as well as cerebral hypodensities have also been re-ported (2, 4).

Unilateral cerebral changes ipsilateral to the facial atrophy as seen in our case have been described by others (1– 4). However, our case differs from other studies, which have reported contralateral cerebral involvement. Most refer-ences to contralateral intracranial disease were nonspecific and were inferred from findings on skull radiographs (6) or from the presence of ventriculomegaly seen on pneumoencephalo-grams (3, 6). In one case a CT finding of focal increased density in the contralateral hemi-sphere was described (3). The finding was non-specific but raised the possibility of bilateral disease in a case of progressive facial hemiat-rophy syndrome.

The pathogenesis of progressive facial hemi-atrophy has eluded investigators. Trauma has been implied, but trauma is an inconsistent fea-ture (3). In 1945, Wartenberg (7) ascribed cases of scleroderma with streaklike facial atro-phy (coup de sabre) to “abortive progressive facial hemiatrophy.” Other reports have sug-gested that the opposite is true: that progressive facial hemiatrophy is a form of focal sclero-derma (5, 8). The diagnostic differentiating fea-ture between the two is the preservation of elas-tic tissue at histologic examination in pro-gressive facial hemiatrophy. Encephalitis, com-plicated migraine, and slow virus infection have also been advanced as possible causes (4, 8).

Several authors have proposed that progres-sive facial hemiatrophy results from a distur-bance leading to sympathetic nervous system hyperactivity (7, 9, 10). Wartenberg (7) stated that trophism of the fat and subcutaneous tis-sues is under the influence of the sympathetic nervous system. Moss and Crikelair (9)

pro-duced a condition resembling progressive facial hemiatrophy by performing a unilateral sympa-thectomy in rats. More recently, Resende et al (10) ablated the superior cervical sympathetic ganglion in young rabbits, cats, and dogs, and reproduced the principal clinical alterations of Parry-Romberg syndrome. In humans, no case of progressive facial hemiatrophy has occurred after cervical sympathectomy. The disease most commonly occurs during the first or sec-ond decade of life, when facial and head growth might be most affected. We suggest that the clinical features of Parry-Romberg syndrome may not be apparent if sympathectomy occurs after facial maturation and cessation of head growth.

In contrast, many authors have reasoned that a pathologic state of sympathetic irritation leads to the facial hemiatrophy and, as a result, peri-arterial sympathectomy has been performed with some success in order to halt the progres-sion of facial atrophy (8). Tebloev and Kalash-nikov (11) reported 19 patients in whom facial hemiatrophy developed after the onset of gan-glionitis of the superior cervical sympathetic ganglion, brain stem encephalitis, trigeminal neuralgia, tumors of the gasserian ganglion, and syringobulbia. These authors proposed a pathologic relationship between the develop-ment of symptomatic facial hemiatrophy and lesions of the mesencephalotruncal and supe-rior cervical sympathetic ganglion structures. If the sympathetic nervous system is responsible, it remains unclear whether facial atrophy results from postinflammatory hypofunctioning of the sympathetic nerves or from sympathetic hyper-activity in the presence of active inflammation. Anatomically, the internal carotid nerves arise from the superior cervical ganglia and give rise to the medial and lateral internal carotid plexus. The lateral plexus communicates with lower cranial and deep facial nerves and gan-glia, while the medial plexus communicates with upper cranial nerves. Terminal filaments from the internal carotid plexus course around the cerebral arteries (12).

(7)

hemiat-rophy and demonstrates the first phases of a chronic, progressive disease course that is punctuated by acute exacerbations. We dis-agree with Fry et al (1), who discounted the theory of a trigeminal or sympathetic innerva-tion abnormality. Instead, we favor the hypoth-esis of hyperactivity of the sympathetic nervous system, specifically, inflammation of the supe-rior cervical ganglion in a young patient, as the cause of progressive facial hemiatrophy. The division of the sympathetic nervous system into right and left and the distribution of medial and lateral internal carotid nerve branches provide an anatomic basis for the unilateral facial and intracranial manifestations of the disease. The hyperactive vasomotor tone of the intracranial vasculature might explain migraine symptom-atology and normal cerebral angiography. Last, recent animal studies and clinical series lend support to the hyperactive sympathetic nervous system hypothesis as the etiologic mechanism responsible for progressive hemifacial atrophy syndrome (8 –11).

Acknowledgments

We thank Dorothy Shumate for her kind assistance in searching the literature and preparing the manuscript and L. Habelson Wilf and Robert P. Booth for their assistance in editing the manuscript.

References

1. Fry JA, Alvarellos A, Fink CW, Blaw ME, Roach ES. Intracranial findings in progressive facial hemiatrophy. J Rheum1992;19: 956 –958

2. Terstegge K, Kunath B, Felber S, Speciali JG, Henkes H, Hosten N. MR of brain involvement in progressive hemifacial atrophy (Romberg disease): reconsideration of a syndrome.AJNR Am J Neuroradiol1994;15:145–150

3. Aher SW, Berg BO. Progressive hemifacial atrophy: report of 3cases, including one observed over 43 years, and CT findings.

Arch Neurol1992;39:44 – 46

4. Sagild J, Alving J. Hemiplegic migraine and progressive hemifa-cial atrophy.Ann Neurol1985;17:620

5. Merritt KK, Faber HK, Bruch H. Progressive facial hemiatrophy: report of two cases with cerebral calcifications.J Pediatr1937;10: 374 –395

6. Eadie MJ, Sutherland JM, Tyrer JH. The clinical features of hemi-facial atrophy.Med J Austr 1963;50:177–180

7. Wartenberg R. Progressive facial hemiatrophy.Arch Neurol Psy-chiatry1945;54:75–97

8. Rogers BO. Progressive facial hemiatrophy: Romberg’s disease: a review of 772 cases.International Congress Series 66. Washing-ton, DC: Excerpta Medica Foundation; 1963:681– 689

9. Moss ML, Crikelair GF. Progressive facial hemiatrophy following cervical sympathectomy in the rat.Arch Oral Biol1959;1:254 – 258

10. Resende LA, Pai DV, Alves A. Experimental study of progressive facial hemiatrophy: effects of cervical sympathectomy in animals [in French].Rev Neurol (Paris)1991;147:609 – 611

11. Tebloev IK, Kalashnikov IuD. Pathogenesis of symptomatic facial hemiatrophy [in Russian].Zh Nevropatol Psikhiatr Im S S Korsa-kova1979;79:413– 416

12. Gray H; Goss CM, ed.Gray’s Anatomy of the Human Body.29th ed. Philadelphia, Pa: Lea & Febiger; 1973:1013–1014

Figure

Fig 1. Left-sided facial changes in a 6-year-old girl
Fig 4. Serial parasagittal images of the
Fig 5. Axial noncontrast (Ayears 7 months) show sulcal/pial enhancement. Axial noncontrast T2-weighted image at the same level () and contrast-enhanced (B) T1-weighted MR images at the level of the centrum semiovale (at age 5C) shows abnormal subcorticalhigh signal.
Fig 7. Axialnoncontraststill present (contrast-enhanced (weighted (and parietal lobes above the lateral ven-tricles (at age 7 years 4 months) showmildmorewhite matter high signal changes arepresent (ages(A)andB) T1-weighted im-andspin-density(C)andT2-D) im

References

Related documents

8, even with high variation in stress levels, similar critical stress values were obtained over a range of times to failure, that is, the critical stress can be applied in

DDX3 has now been shown to have at least three functions in this pathway: enhancement of IPS-1 function via the C-terminus of DDX3 [3], as an adaptor for TBK1 and IKKε via the

At a recent Keystone Symposium on ‘Developmental Biology and Tissue Engineering’, new findings in areas ranging from stem cell differentiation, embryonic pattern formation and

The hybrids 900 M, DKC 7074 and Bisco 1111, though exhibited high mean performance with average regression coefficient but deviation from regression was significant,

In einer systematischen Übersichtsarbeit der Literatur soll untersucht werden, ob eine Supplementation mit den antioxidativen Vitamine A, C oder E bei Patienten mit

In present investigation, fruit number, juice-pulp ratio, fruit weight, number of fruit per truss, total sugars (%), number of branches per plant and total soluble solids

As a result, the introduction of productive government spending has a positive effect on domestic output and consumption, when compared with the `pure waste’ benchmark

The parameters determined includes: moisture content, particle size distribution, soil pH, organic carbon content adapted from [5], available nitrogen, available